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Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37.
Booth, Kevin T; Askew, James W; Talebizadeh, Zohreh; Huygen, Patrick L M; Eudy, James; Kenyon, Judith; Hoover, Denise; Hildebrand, Michael S; Smith, Katherine R; Bahlo, Melanie; Kimberling, William J; Smith, Richard J H; Azaiez, Hela; Smith, Shelley D.
Affiliation
  • Booth KT; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA.
  • Askew JW; Interdisciplinary Graduate Program in Molecular Medicine, Carver College of Medicine, University of Iowa, Iowa City, IA, USA.
  • Talebizadeh Z; Developmental Neuroscience, Munroe Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
  • Huygen PLM; Children's Mercy Hospital and University of Missouri-Kansas City School of Medicine, Kansas City, MO, USA.
  • Eudy J; Department of Otorhinolaryngology, Radboud University Nijmegen Medical Centre, Nijmegen, Netherlands.
  • Kenyon J; DNA Microarray and Sequencing Core, University of Nebraska Medical Center, Omaha, NE, USA.
  • Hoover D; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA.
  • Hildebrand MS; Developmental Neuroscience, Munroe Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
  • Smith KR; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, Australia.
  • Bahlo M; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
  • Kimberling WJ; The Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia.
  • Smith RJH; Department of Medical Biology, The University of Melbourne, Parkville, VIC, Australia.
  • Azaiez H; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA.
  • Smith SD; Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, University of Iowa, Iowa City, IA, USA.
Genet Med ; 21(4): 948-954, 2019 04.
Article in En | MEDLINE | ID: mdl-30245514
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Isoforms / Collagen Type XI / Deafness / Genetic Linkage Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Genet Med Year: 2019 Document type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Protein Isoforms / Collagen Type XI / Deafness / Genetic Linkage Type of study: Prognostic_studies Limits: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male / Newborn Language: En Journal: Genet Med Year: 2019 Document type: Article